Joint Open Genome and Omics Platform (JoGo)

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regionname	pos	ref	alt	annotation	impact	samples	ahapids	chapids	thapids	thapids	ac	an	af	len	hgvs_c	genename	geneid	featuretype	featureid	transcript_biotype	rank	distance	status	chr	external
RTP5_chr2_241864729_241878823	241878016	C C	CGCCCCCC others(171): Show CGCCCCCCAACCCCATCCCTCTCCTCGCTCCCCTCCCTCTCCCGGCCCCC CCACCCCCATCCCTCTCCTCGCTCCCCTCCCTCTCCCGGCCCCCCCACCC CATCCCTCTCCTCGCTCCCCTCCCTCTCCTGGCCCCCCCACCCCATCCCT CTCCTCGCTCCCCTCCCTCTCCTGGCCGT	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18975.hp2 NA18975.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0026 a0002c0002t0001g0026	1	365	0.0027	178	c.47 others(189): Show c.4742_*4743insGCCCCCCAACCCCATCCCTCTCCTCGCTCCCCTC CCTCTCCCGGCCCCCCCACCCCCATCCCTCTCCTCGCTCCCCTCCCTCTC CCGGCCCCCCCACCCCATCCCTCTCCTCGCTCCCCTCCCTCTCCTGGCCC CCCCACCCCATCCCTCTCCTCGCTCCCCTCCCTCTCCTGGCCGT	RTP5	ENSG00000188011.5	transcript	ENST00000343216.3	protein_coding		4194		chr2	TogoVar
RTP5_chr2_241864729_241878823	241878060	C C	CCCCCCCA others(171): Show CCCCCCCACCCCCATCCCTCTCCTCGCTCCCCTCCCTCTCCCGGCCCCCC CACCCCATCCCTCTCCTCGCTCCCCTCCCTCTCCTGGCCGTCCCCCACCC CCATCCCTCTCCTCGCTCCCCTCCCTCTCCTGGCCGCCCCCCCCACCCCA TCCCTCTCCTCGCTCCCCTCCCTCTCCTG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02080.hp1 HG02080.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0002 a0002c0002t0001g0002	1	365	0.0027	178	c.47 others(189): Show c.4786_*4787insCCCCCCACCCCCATCCCTCTCCTCGCTCCCCTCC CTCTCCCGGCCCCCCCACCCCATCCCTCTCCTCGCTCCCCTCCCTCTCCT GGCCGTCCCCCACCCCCATCCCTCTCCTCGCTCCCCTCCCTCTCCTGGCC GCCCCCCCCACCCCATCCCTCTCCTCGCTCCCCTCCCTCTCCTG	RTP5	ENSG00000188011.5	transcript	ENST00000343216.3	protein_coding		4238		chr2	TogoVar
RUFY1_chr5_179545554_179615012	179550512	T T	TGCCCGCC others(171): Show TGCCCGCCCGCCCCCACCCCGCGCCCGCCCGCCCGCCCGCCCCCACCCCG CGCCCGCCCGCCCGCCCGCCCCCACCCCGCGCCCGCCCGCCCGCCCGCCC CCACCCCGCGCCCGCCCGCCCGCCCGCCCCCACCCCGCGCCCGCCCGCCC GCCCGCCCGCCCGCCCCCACCCCGCGCCC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01256.hp2 HG01256.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0313 a0001c0001t0001g0313	1	376	0.0027	178	c.-58 others(185): Show c.-58_-57insGCCCGCCCGCCCCCACCCCGCGCCCGCCCGCCCGCCCG CCCCCACCCCGCGCCCGCCCGCCCGCCCGCCCCCACCCCGCGCCCGCCCG CCCGCCCGCCCCCACCCCGCGCCCGCCCGCCCGCCCGCCCCCACCCCGCG CCCGCCCGCCCGCCCGCCCGCCCGCCCCCACCCCGCGCCC	RUFY1	ENSG00000176783.15	transcript	ENST00000319449.9	protein_coding		41		chr5	TogoVar
RUNX1_chr21_34782801_35054302	34849315	T T	TATATAGT others(171): Show TATATAGTATATATACTATATTATATATAGTATATATACTATAGTATATA TACTATATTATATATAGTATATATACTATAGTATATATACTATATATAAT ATAGTATATATACTATATATAATATATAGTATATATAATATATTATATAT AGTATATATTATATATAGTATAATATATA	intron_variant intron_variant	MODIFIER	HG02148.hp1 HG02148.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0088 a0001c0001t0002g0088	1	170	0.0059	178	c.613 others(197): Show c.613+10158_613+10159insTATATATTATACTATATATAATATAT ACTATATATAATATATTATATATACTATATATTATATATAGTATATATAC TATATTATATATAGTATATATACTATAGTATATATACTATATATAATATA GTATATATACTATAGTATATATACTATATATAATATAGTATATATACTAT AT	RUNX1	ENSG00000159216.19	transcript	ENST00000675419.1	protein_coding	6/8			chr21	TogoVar
RXRA_chr9_134321455_134445585	134369033	T T	TGGGGGGT others(171): Show TGGGGGGTTATGTGTGTATGGGGGGTTATGTGTGGGGGGAGTTGTGTGTG TGGGGGTTATGTGTGTGTGTGAGTGCCGGGGTTATGTGTGTGTGAGTGCA GGGGTTGTGTGTGTGGGGTTATGTGTGTGTGAGTGCGGGGCTTGTGTGTG TGTGTGGGGGGGGGGGGTTATGTGTGTGG	intron_variant intron_variant	MODIFIER	HG02615.hp1 HG02615.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0060 a0001c0001t0060	a0001c0001t0060g0210 a0001c0001t0060g0210	1	232	0.0043	178	c.29- others(195): Show c.29-32545_29-32544insGTTATGTGTGTGTGTGAGTGCCGGGGTT ATGTGTGTGTGAGTGCAGGGGTTGTGTGTGTGGGGTTATGTGTGTGTGAG TGCGGGGCTTGTGTGTGTGTGTGGGGGGGGGGGGTTATGTGTGTGGGGGG GGTTATGTGTGTATGGGGGGTTATGTGTGGGGGGAGTTGTGTGTGTGGGG	RXRA	ENSG00000186350.12	transcript	ENST00000481739.2	protein_coding	1/9		INFO_REALIGN_3_PRIME	chr9	TogoVar
SARDH_chr9_133658560_133743352	133668454	T T	TCCCTCAC others(171): Show TCCCTCACCCTCCCTCTCCCCTCACCCTCTCTCTCCCTCACCCTCCCTCT CCCCTCGCCCTCCCTCTCCCCTCGCCCTCCCTCTCCCCTCACCCTCACCC TCCCTCTCCCTCACCCTCACCCTCCCTCTCCCTCACCCTCCCTCTCCCCT CACCCTCTCTCATCCCTCACCCTCCCCTC	intron_variant intron_variant	MODIFIER	HG03834.hp1 HG03834.hp1	a0002 a0002	a0002c0018 a0002c0018	a0002c0018t0003 a0002c0018t0003	a0002c0018t0003g0104 a0002c0018t0003g0104	1	262	0.0038	178	c.249 others(197): Show c.2496-1585_2496-1584insGAGGGGAGGGTGAGGGATGAGAGAGG GTGAGGGGAGAGGGAGGGTGAGGGAGAGGGAGGGTGAGGGTGAGGGAGAG GGAGGGTGAGGGTGAGGGGAGAGGGAGGGCGAGGGGAGAGGGAGGGCGAG GGGAGAGGGAGGGTGAGGGAGAGAGAGGGTGAGGGGAGAGGGAGGGTGAG GG	SARDH	ENSG00000123453.19	transcript	ENST00000439388.6	protein_coding	19/20			chr9	TogoVar
SARDH_chr9_133658560_133743352	133668454	T T	TCCCTCAC others(171): Show TCCCTCACCCTCCCTCTCCCCTCACCCTCTCTCTCCCTCACCCTCCCTCT CCCCTCGCCCTCCCTCTCCCCTCGCCCTCCCTCTCCCCTCACCCTCACCC TCCCTCTCCCTCACCCTCACCCTCCCTCTCCCTCACCCTCCCTCTCCCCT CACCCTCTCTCTCCCTCACCCTCCCTCTC	intron_variant intron_variant	MODIFIER	HG01257.hp1 HG01257.hp1	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0003 a0003c0003t0003	a0003c0003t0003g0135 a0003c0003t0003g0135	1	262	0.0038	178	c.249 others(197): Show c.2496-1585_2496-1584insGAGAGGGAGGGTGAGGGAGAGAGAGG GTGAGGGGAGAGGGAGGGTGAGGGAGAGGGAGGGTGAGGGTGAGGGAGAG GGAGGGTGAGGGTGAGGGGAGAGGGAGGGCGAGGGGAGAGGGAGGGCGAG GGGAGAGGGAGGGTGAGGGAGAGAGAGGGTGAGGGGAGAGGGAGGGTGAG GG	SARDH	ENSG00000123453.19	transcript	ENST00000439388.6	protein_coding	19/20			chr9	TogoVar
SARDH_chr9_133658560_133743352	133668865	C C	CCCCTCAC others(171): Show CCCCTCACCCTCCCTCTCCCTCACCTTCCCTCTCCCTCACCTTCCCTCTC CCTTACCCTCCATCTCCCTCACCCTCCCTCTCCCCTTACCCTCCCTCTCC CTCACCTTCCCTCTCCCCTACCCTCCCTCTCCCTCACCCTCCCTCTCCCT CACCCTCCATCTCCCCTCACCCTCCCTCT	intron_variant intron_variant	MODIFIER	NA19084.hp1 NA19084.hp1	a0002 a0002	a0002c0005 a0002c0005	a0002c0005t0003 a0002c0005t0003	a0002c0005t0003g0103 a0002c0005t0003g0103	1	262	0.0038	178	c.249 others(197): Show c.2495+1718_2495+1719insAGAGGGAGGGTGAGGGGAGATGGAGG GTGAGGGAGAGGGAGGGTGAGGGAGAGGGAGGGTAGGGGAGAGGGAAGGT GAGGGAGAGGGAGGGTAAGGGGAGAGGGAGGGTGAGGGAGATGGAGGGTA AGGGAGAGGGAAGGTGAGGGAGAGGGAAGGTGAGGGAGAGGGAGGGTGAG GG	SARDH	ENSG00000123453.19	transcript	ENST00000439388.6	protein_coding	19/20			chr9	TogoVar
SCNN1D_chr1_1275436_1297025	1289357	C C	CCGTGTCT others(171): Show CCGTGTCTCTGCCCCGTCCCGTGTCTCTGCCCCGTCCCGTGTCTCTGCCC CGTCCCGTGTCTCTGCCCCGTCCCGTGTCTCTGCCCCGTCCCGTGTCTCT GCCCCGTCCCGTGTCTCTGCTCCGTCCCGTGTCCCTGCTCCGTCCCGTGT CCCTGCTCCGTCCCGTGTCTCTGCTCCGT	intron_variant intron_variant	MODIFIER	HG03540.hp2 HG03540.hp2	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0004 a0002c0003t0004	a0002c0003t0004g0117 a0002c0003t0004g0117	1	290	0.0035	178	c.166 others(195): Show c.1663-913_1663-912insGTGTCTCTGCCCCGTCCCGTGTCTCTGC CCCGTCCCGTGTCTCTGCCCCGTCCCGTGTCTCTGCCCCGTCCCGTGTCT CTGCCCCGTCCCGTGTCTCTGCCCCGTCCCGTGTCTCTGCTCCGTCCCGT GTCCCTGCTCCGTCCCGTGTCCCTGCTCCGTCCCGTGTCTCTGCTCCGTC	SCNN1D	ENSG00000162572.21	transcript	ENST00000379116.10	protein_coding	12/17		INFO_REALIGN_3_PRIME	chr1	TogoVar
SCNN1D_chr1_1275436_1297025	1289471	C C	CCCCGTGT others(171): Show CCCCGTGTCTGCTCCGTCCCGTGTCTCTGCTCCGTCCCGTGTCTCTGCTC CGTCCCCCGTGTCTGCTCCGTCCCGTGTCTCTGCCCCGTCCCGTGTCTCT GCCCCGTCCCGTGTCTCTGCCCCGTCCCGTGTCTCTGCTCCGTCCCGTGT CCCTGCTCCGTCCCCCGTGTCTGCTCCGT	intron_variant intron_variant	MODIFIER	NA18975.hp2 NA18975.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0045 a0002c0002t0001g0045	1	290	0.0035	178	c.166 others(195): Show c.1663-791_1663-790insGCTCCGTCCCGTGTCTCTGCTCCGTCCC GTGTCTCTGCTCCGTCCCCCGTGTCTGCTCCGTCCCGTGTCTCTGCCCCG TCCCGTGTCTCTGCCCCGTCCCGTGTCTCTGCCCCGTCCCGTGTCTCTGC TCCGTCCCGTGTCCCTGCTCCGTCCCCCGTGTCTGCTCCGTCCCGTGTCT	SCNN1D	ENSG00000162572.21	transcript	ENST00000379116.10	protein_coding	12/17		INFO_REALIGN_3_PRIME	chr1	TogoVar
SCNN1D_chr1_1275436_1297025	1293764	G G	GGAGGCCC others(171): Show GGAGGCCCCGCCCCTGCCCTGGAGCCCCGCCCCTGCCCTGGAGGCCCCGC CCCTGCCCTGGAGGCCCCGCCCCTGCCCTGGAGGCCCCGCCCCTGCCCTG GAGGCCCCGCCCCTGCCCTGGAGCCCCGCCCCTGCCCTGGAGTTCCCGCC CCTGCCCTGGAGGCCCCGCCCCTGCCCTT	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18612.hp1 NA18612.hp1	a0003 a0003	a0003c0004 a0003c0004	a0003c0004t0003 a0003c0004t0003	a0003c0004t0003g0138 a0003c0004t0003g0138	1	290	0.0035	178	c.21 others(189): Show c.2154_*2155insGAGGCCCCGCCCCTGCCCTGGAGCCCCGCCCCTG CCCTGGAGGCCCCGCCCCTGCCCTGGAGGCCCCGCCCCTGCCCTGGAGGC CCCGCCCCTGCCCTGGAGGCCCCGCCCCTGCCCTGGAGCCCCGCCCCTGC CCTGGAGTTCCCGCCCCTGCCCTGGAGGCCCCGCCCCTGCCCTT	SCNN1D	ENSG00000162572.21	transcript	ENST00000379116.10	protein_coding		1740		chr1	TogoVar
SEMA5A_chr5_9030033_9551075	9353339	A A	AAAGGAAA others(171): Show AAAGGAAAGGAAAGGAAAGGAAAGGAAAGGAAGGAAAGGGAAGGGAAGGG AAGGGAAGCAAAGGAAAGGAAAGGAAAGGAGGGAAAGGAAGGGAAGGGAA GGGAAGGGAAATGAAAGGAAATGAAAGGAAAGGAAAGGGAAGGAAAGGAA AGGAAAGGAAAGGAAAGGAAAGGAAAGGG	intron_variant intron_variant	MODIFIER	HG02040.hp2 HG02257.hp2 HG03195.hp1 HG02040.hp2 HG02257.hp2 HG03195.hp1	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0001 a0001c0001t0032 a0001c0003t0019 a0001c0001t0001 a0001c0001t0032 a0001c0003t0019	a0001c0001t0001g0014 a0001c0001t0032g0067 a0001c0003t0019g0104 a0001c0001t0001g0014 a0001c0001t0032g0067 a0001c0003t0019g0104	3	134	0.0224	178	c.125 others(197): Show c.125-15528_125-15527insCCCTTTCCTTTCCTTTCCTTTCCTTT CCTTTCCTTTCCTTCCCTTTCCTTTCCTTTCATTTCCTTTCATTTCCCTT CCCTTCCCTTCCCTTCCTTTCCCTCCTTTCCTTTCCTTTCCTTTGCTTCC CTTCCCTTCCCTTCCCTTTCCTTCCTTTCCTTTCCTTTCCTTTCCTTTCC TT	SEMA5A	ENSG00000112902.12	transcript	ENST00000382496.10	protein_coding	3/22			chr5	TogoVar
SEMA5A_chr5_9030033_9551075	9353344	A A	AAAGGAAA others(171): Show AAAGGAAAGGAAAGGAAAGGAAAGGAAGGAAAGGGAAGGGAAGGGAAGGG AAGCAAAGGAAAGGAAAGGAAAGGAGGGAAAGGAAGGGAAGGGAAGGGAA GGGAAATGAAAGGAAATGAAAGGAAAGGAAAGGGAAGGAAAGGAAAGGAA AGGAAAGGAAAGGAAAGGAAAGGAAAGGG	intron_variant intron_variant	MODIFIER	HG03209.hp2 HG03831.hp2 HG03209.hp2 HG03831.hp2	a0001 a0001	a0001c0003 a0001c0004 a0001c0003 a0001c0004	a0001c0003t0006 a0001c0004t0049 a0001c0003t0006 a0001c0004t0049	a0001c0003t0006g0047 a0001c0004t0049g0011 a0001c0003t0006g0047 a0001c0004t0049g0011	2	134	0.0149	178	c.125 others(197): Show c.125-15533_125-15532insCCCTTTCCTTTCCTTTCCTTTCCTTT CCTTTCCTTTCCTTTCCTTCCCTTTCCTTTCCTTTCATTTCCTTTCATTT CCCTTCCCTTCCCTTCCCTTCCTTTCCCTCCTTTCCTTTCCTTTCCTTTG CTTCCCTTCCCTTCCCTTCCCTTTCCTTCCTTTCCTTTCCTTTCCTTTCC TT	SEMA5A	ENSG00000112902.12	transcript	ENST00000382496.10	protein_coding	3/22			chr5	TogoVar
SEMA5A_chr5_9030033_9551075	9353344	A A	AAAGGAAA others(171): Show AAAGGAAAGGAAAGGAAAGGAAGGAAAGGGAAGGGAAGGGAAGGGAAGCA AAGGAAAGGAAAGGAAAGGAGGGAAAGGAAGGGAAGGGAAGGGAAGGGAA ATGAAAGGAAATGAAAGGAAAGGAAAGGGAAGGAAAGGAAAGGAAAGGAA AGGAAAGGAAAGGAAAGGAAAGGAAAGGG	intron_variant intron_variant	MODIFIER	NA18970.hp1 NA18970.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0005 a0001c0003t0005	a0001c0003t0005g0021 a0001c0003t0005g0021	1	134	0.0075	178	c.125 others(197): Show c.125-15533_125-15532insCCCTTTCCTTTCCTTTCCTTTCCTTT CCTTTCCTTTCCTTTCCTTTCCTTCCCTTTCCTTTCCTTTCATTTCCTTT CATTTCCCTTCCCTTCCCTTCCCTTCCTTTCCCTCCTTTCCTTTCCTTTC CTTTGCTTCCCTTCCCTTCCCTTCCCTTTCCTTCCTTTCCTTTCCTTTCC TT	SEMA5A	ENSG00000112902.12	transcript	ENST00000382496.10	protein_coding	3/22			chr5	TogoVar
SEMA5A_chr5_9030033_9551075	9353349	A A	AAAGGAAA others(171): Show AAAGGAAAGGAAAGGAAAGGAAAGGAAGGAAAGGGAAGGGAAGGGAAGGG AAGCAAAGGAAAGGAAAGGAAAGGAGGGAAAGGAAGGGAAGGGAAGGGAA GGGAAATGAAAGGAAATGAAAGGAAAGGAAAGGGAAGGAAAGGAAAGGAA AGGAAAGGAAAGGAAAGGAAAGGAAAGGG	intron_variant intron_variant	MODIFIER	HG00738.hp2 HG01243.hp1 HG01243.hp2 others(2): Show HG00738.hp2 HG01243.hp1 HG01243.hp2 HG02451.hp1 NA18989.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0001c0005 a0001c0006 others(2): Show a0001c0001 a0001c0005 a0001c0006 a0001c0007 a0002c0014	a0001c0001t0011 a0001c0005t0048 a0001c0006t0021 others(2): Show a0001c0001t0011 a0001c0005t0048 a0001c0006t0021 a0001c0007t0016 a0002c0014t0057	a0001c0001t0011g0028 a0001c0005t0048g0022 a0001c0006t0021g0001 others(2): Show a0001c0001t0011g0028 a0001c0005t0048g0022 a0001c0006t0021g0001 a0001c0007t0016g0095 a0002c0014t0057g0087	5	134	0.0373	178	c.125 others(197): Show c.125-15538_125-15537insCCCTTTCCTTTCCTTTCCTTTCCTTT CCTTTCCTTTCCTTTCCTTCCCTTTCCTTTCCTTTCATTTCCTTTCATTT CCCTTCCCTTCCCTTCCCTTCCTTTCCCTCCTTTCCTTTCCTTTCCTTTG CTTCCCTTCCCTTCCCTTCCCTTTCCTTCCTTTCCTTTCCTTTCCTTTCC TT	SEMA5A	ENSG00000112902.12	transcript	ENST00000382496.10	protein_coding	3/22			chr5	TogoVar
SEMA5A_chr5_9030033_9551075	9353349	A A	AAAGGAAA others(171): Show AAAGGAAAGGAAAGGAAAGGAAGGAAAGGGAAGGGAAGGGAAGGGAAGCA AAGGAAAGGAAAGGAAAGGAGGGAAAGGAAGGGAAGGGAAGGGAAGGGAA ATGAAAGGAAATGAAAGGAAAGGAAAGGGAAGGAAAGGAAAGGAAAGGAA AGGAAAGGAAAGGAAAGGAAAGGAAAGGG	intron_variant intron_variant	MODIFIER	NA19043.hp2 NA19043.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0003 a0001c0003t0003	a0001c0003t0003g0031 a0001c0003t0003g0031	1	134	0.0075	178	c.125 others(197): Show c.125-15538_125-15537insCCCTTTCCTTTCCTTTCCTTTCCTTT CCTTTCCTTTCCTTTCCTTTCCTTCCCTTTCCTTTCCTTTCATTTCCTTT CATTTCCCTTCCCTTCCCTTCCCTTCCTTTCCCTCCTTTCCTTTCCTTTC CTTTGCTTCCCTTCCCTTCCCTTCCCTTTCCTTCCTTTCCTTTCCTTTCC TT	SEMA5A	ENSG00000112902.12	transcript	ENST00000382496.10	protein_coding	3/22			chr5	TogoVar
SERPINF2_chr17_1737871_1760265	1740284	G G	GTGTGAGG others(171): Show GTGTGAGGGCGGGAAGCGGCCTGATGCAGGGAGTGAGGCGCAGGACACTG AGGGTGGGAAGGAGCCTGATTCAGGGAGTGAGGCGCAGGACAGTGAGGGT GGGAAGGAGCCTGATGCAGGGAGTGAGGAGCAGGACAGTGAGGGTGGGAG GCGGCCTGATGCAGGGAGTGAGGAGCCGT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00597.hp1 HG01175.hp2 HG00597.hp1 HG01175.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0004 a0002c0002t0004	a0002c0002t0004g0009 a0002c0002t0004g0059 a0002c0002t0004g0009 a0002c0002t0004g0059	2	445	0.0045	178	c.-26 others(189): Show c.-2629_-2628insTGTGAGGGCGGGAAGCGGCCTGATGCAGGGAGTG AGGCGCAGGACACTGAGGGTGGGAAGGAGCCTGATTCAGGGAGTGAGGCG CAGGACAGTGAGGGTGGGAAGGAGCCTGATGCAGGGAGTGAGGAGCAGGA CAGTGAGGGTGGGAGGCGGCCTGATGCAGGGAGTGAGGAGCCGT	SERPINF2	ENSG00000167711.14	transcript	ENST00000453066.6	protein_coding		2586		chr17	TogoVar
SGSM2_chr17_2332501_2386054	2362431	T T	TCCCAAAA others(171): Show TCCCAAAAACTGCGGGTGACCACCCCGTTCCCCCCAAAACTGCAGGTGAC CACCCCGTTCCCCCCAAAACTGCAGGTGACCGCCCCGTTCCCCAAAAACT GCGGGTGACCACCCCGTTCCCCCCAAAACTGCAGGTGACCACCCCGTTCC CCCCAAAACTGCAGGTGACCGCCCCGTTC	intron_variant intron_variant	MODIFIER	HG02886.hp1 HG02886.hp1	a0018 a0018	a0018c0035 a0018c0035	a0018c0035t0001 a0018c0035t0001	a0018c0035t0001g0301 a0018c0035t0001g0301	1	422	0.0024	178	c.458 others(193): Show c.458+173_458+174insGGGTGACCACCCCGTTCCCCCCAAAACTGC AGGTGACCACCCCGTTCCCCCCAAAACTGCAGGTGACCGCCCCGTTCCCC AAAAACTGCGGGTGACCACCCCGTTCCCCCCAAAACTGCAGGTGACCACC CCGTTCCCCCCAAAACTGCAGGTGACCGCCCCGTTCCCCAAAAACTGC	SGSM2	ENSG00000141258.13	transcript	ENST00000268989.8	protein_coding	4/23		INFO_REALIGN_3_PRIME	chr17	TogoVar
SH3TC1_chr4_8194290_8246103	8211427	C C	CTCTCCCT others(171): Show CTCTCCCTCCCTCTCCACCCTCCTCACCGTTGTCTCCCTTCTCCCTCCCT CTCCCCCTCCTGGTTTCTCCCCTCTTCCTTCCTCTCCCCCTCCCAGTTTC TCCCCTCTCCCTCCCTCTCCCCCTCCTGGTTTCTCCCCTCTCCCTCCCTC TCCACCCGCCCCCGCACCGTTTTCTCCCT	intron_variant intron_variant	MODIFIER	HG02129.hp1 HG02129.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0338 a0001c0001t0001g0338	1	374	0.0027	178	c.248 others(195): Show c.248-1255_248-1254insTCCTCACCGTTGTCTCCCTTCTCCCTCC CTCTCCCCCTCCTGGTTTCTCCCCTCTTCCTTCCTCTCCCCCTCCCAGTT TCTCCCCTCTCCCTCCCTCTCCCCCTCCTGGTTTCTCCCCTCTCCCTCCC TCTCCACCCGCCCCCGCACCGTTTTCTCCCTTCTCCCTCCCTCTCCACCC	SH3TC1	ENSG00000125089.18	transcript	ENST00000245105.8	protein_coding	3/17		INFO_REALIGN_3_PRIME	chr4	TogoVar
SHC2_chr19_411589_466033	431888	C C	CAGATAGA others(171): Show CAGATAGATGGCGCTTCATCGTGAGTGAGATCGTGAGTGAGAGATAGAGG AGGCCGGGCAGATAGATGGCGCTTCATCGTGAGTGAGATCATGAGTGAGA GTTAGAGGAGGCGGGGCAGATAGATGGCGCTTCATCGTGAGTGAGATAGT GAGTGAGAGATAGAGGAGGCCGGGCAGAT	intron_variant intron_variant	MODIFIER	HG04204.hp1 HG04204.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0002 a0001c0003t0002	a0001c0003t0002g0181 a0001c0003t0002g0181	1	212	0.0047	178	c.111 others(197): Show c.1111-1142_1111-1141insATCTGCCCGGCCTCCTCTATCTCTCA CTCACTATCTCACTCACGATGAAGCGCCATCTATCTGCCCCGCCTCCTCT AACTCTCACTCATGATCTCACTCACGATGAAGCGCCATCTATCTGCCCGG CCTCCTCTATCTCTCACTCACGATCTCACTCACGATGAAGCGCCATCTAT CT	SHC2	ENSG00000129946.11	transcript	ENST00000264554.11	protein_coding	8/12			chr19	TogoVar
SHC2_chr19_411589_466033	431888	C C	CAGATAGA others(171): Show CAGATAGATGGCGCTTCATCGTGAGTGAGATCGTGAGTGAGAGATAGAGG AGGCCGGGCAGATAGATGGCGCTTCATCGTGAGTGAGATCGTGAGTGAGA GTTAGAGGAGGCGGGGCAGATAGATGGCGCTTCATCGTGAGTGAGATAGT GAGTGAGAGATAGAGGAGGCCGGGCAGAT	intron_variant intron_variant	MODIFIER	HG04228.hp1 HG04228.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0002 a0001c0003t0002	a0001c0003t0002g0078 a0001c0003t0002g0078	1	212	0.0047	178	c.111 others(197): Show c.1111-1142_1111-1141insATCTGCCCGGCCTCCTCTATCTCTCA CTCACTATCTCACTCACGATGAAGCGCCATCTATCTGCCCCGCCTCCTCT AACTCTCACTCACGATCTCACTCACGATGAAGCGCCATCTATCTGCCCGG CCTCCTCTATCTCTCACTCACGATCTCACTCACGATGAAGCGCCATCTAT CT	SHC2	ENSG00000129946.11	transcript	ENST00000264554.11	protein_coding	8/12			chr19	TogoVar
SHISA9_chr16_12896598_13245416	13015951	T T	TTTCCCTT others(171): Show TTTCCCTTCCCTTCCTTTCCCTTCCCTTCCCCTCCCCTCCCCTCCCCTCC CCTCCCCTCCCTTCCCCTTCCCCTTCCCCTTCCCCTTCCCCTTCCCCTTC CCCTTCCCCTTCCCCTCCCCCTCCCCCTCCCCCTCCCCCTCCCCCTCCCC CTCCCCCTCCCCCTCCCCCTCCCCTTCCC	intron_variant intron_variant	MODIFIER	NA18952.hp1 NA18952.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0017 a0001c0001t0017	a0001c0001t0017g0194 a0001c0001t0017g0194	1	214	0.0047	178	c.691 others(197): Show c.691+99150_691+99151insTTTCCCTTCCCTTCCCCTCCCCTCCC CTCCCCTCCCCTCCCCTCCCTTCCCCTTCCCCTTCCCCTTCCCCTTCCCC TTCCCCTTCCCCTTCCCCTTCCCCTCCCCCTCCCCCTCCCCCTCCCCCTC CCCCTCCCCCTCCCCCTCCCCCTCCCCCTCCCCTTCCCTTCCCTTCCCTT CC	SHISA9	ENSG00000237515.10	transcript	ENST00000558583.3	protein_coding	2/4		INFO_REALIGN_3_PRIME	chr16	TogoVar
SLC12A1_chr15_48201302_48309078	48270760	A A	ATATATAT others(171): Show ATATATATATATATACTCTAAGTATTATATATTATATACTCCAAAACTGT GTGTGTGTGTATATATATATATATATATATATATATATATATATATTTAT ACACACATATATATACATACACATATATATATACACACACACACAGAGTT TTGGAGTATATAATATATAATACTTAGAG	intron_variant intron_variant	MODIFIER	HG02083.hp2 NA18947.hp1 NA18977.hp1 others(4): Show HG02083.hp2 NA18947.hp1 NA18977.hp1 NA18985.hp1 NA18986.hp2 NA19075.hp2 NA19079.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0014 a0001c0001t0003 a0001c0001t0014	a0001c0001t0003g0100 a0001c0001t0003g0221 a0001c0001t0003g0226 others(4): Show a0001c0001t0003g0100 a0001c0001t0003g0221 a0001c0001t0003g0226 a0001c0001t0003g0235 a0001c0001t0003g0236 a0001c0001t0003g0242 a0001c0001t0014g0043	7	266	0.0263	178	c.240 others(197): Show c.2402+1010_2402+1011insCTCTAAGTATTATATATTATATACTC CAAAACTGTGTGTGTGTGTATATATATATATATATATATATATATATATA TATATTTATACACACATATATATACATACACATATATATATACACACACA CACAGAGTTTTGGAGTATATAATATATAATACTTAGAGTATATATATATA TA	SLC12A1	ENSG00000074803.21	transcript	ENST00000380993.8	protein_coding	19/26		INFO_REALIGN_3_PRIME	chr15	TogoVar
SLC12A1_chr15_48201302_48309078	48270762	A A	ATATATAT others(171): Show ATATATATATACTCTAAGTATTATATATTATATACTCCAAAACTGTGTGT GTGTGTATATATATATATATATATATATATATATATATATATATATTTAT ACACACATATATATACATACACATATATATATACACACACACACAGAGTT TTGGAGTATATAATATATAATACTTAGAG	intron_variant intron_variant	MODIFIER	HG03579.hp1 HG03579.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0058 a0001c0001t0002g0058	1	266	0.0038	178	c.240 others(197): Show c.2402+1008_2402+1009insCTCTAAGTATTATATATTATATACTC CAAAACTGTGTGTGTGTGTATATATATATATATATATATATATATATATA TATATATATTTATACACACATATATATACATACACATATATATATACACA CACACACAGAGTTTTGGAGTATATAATATATAATACTTAGAGTATATATA TA	SLC12A1	ENSG00000074803.21	transcript	ENST00000380993.8	protein_coding	19/26		INFO_REALIGN_3_PRIME	chr15	TogoVar
SLC12A1_chr15_48201302_48309078	48270764	A A	ATATATAT others(171): Show ATATATATATACTCTAAGTATTATATATTATATACTCCAAAACTGTGTGT GTGTGTGTGTGTATATATATATATATATATATATATATATATATATTTAT ACACACATATATATACATACACATATATATATACACACACACACAGAGTT TTGGAGTATATAATATATAATACTTAGAG	intron_variant intron_variant	MODIFIER	HG00544.hp2 NA18983.hp2 HG00544.hp2 NA18983.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0139 a0001c0001t0002g0160 a0001c0001t0002g0139 a0001c0001t0002g0160	2	266	0.0075	178	c.240 others(197): Show c.2402+1010_2402+1011insCTCTAAGTATTATATATTATATACTC CAAAACTGTGTGTGTGTGTGTGTGTATATATATATATATATATATATATA TATATATATTTATACACACATATATATACATACACATATATATATACACA CACACACAGAGTTTTGGAGTATATAATATATAATACTTAGAGTATATATA TA	SLC12A1	ENSG00000074803.21	transcript	ENST00000380993.8	protein_coding	19/26		INFO_REALIGN_3_PRIME	chr15	TogoVar
SLC12A1_chr15_48201302_48309078	48270764	A A	ATATATAT others(171): Show ATATATATATATACTCTAAGTATTATATATTATATACTCCAAAACTGTGT GTGTGTGTGTGTATATATATATATATATATATATATATATATATATTTAT ACACACATATATATACATACACATATATATATACACACACACACAGAGTT TTGGAGTATATAATATATAATACTTAGAG	intron_variant intron_variant	MODIFIER	HG03130.hp2 HG03130.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0083 a0001c0001t0001g0083	1	266	0.0038	178	c.240 others(197): Show c.2402+1012_2402+1013insCTCTAAGTATTATATATTATATACTC CAAAACTGTGTGTGTGTGTGTGTATATATATATATATATATATATATATA TATATATTTATACACACATATATATACATACACATATATATATACACACA CACACAGAGTTTTGGAGTATATAATATATAATACTTAGAGTATATATATA TA	SLC12A1	ENSG00000074803.21	transcript	ENST00000380993.8	protein_coding	19/26		INFO_REALIGN_3_PRIME	chr15	TogoVar
SLC12A1_chr15_48201302_48309078	48270766	A A	ATATATAT others(171): Show ATATATATACTCTAAGTATTATATATTATATACTCCAAAACTGTGTGTGT GTGTGTGTGTATATATATATATATATATATATATATATATATATATTTAT ACACACATATATATACATACACATATATATATACACACACACACAGAGTT TTGGAGTATATAATATATAATACTTAGAG	intron_variant intron_variant	MODIFIER	HG02148.hp1 HG02258.hp1 NA18957.hp1 others(3): Show HG02148.hp1 HG02258.hp1 NA18957.hp1 NA18986.hp1 NA18991.hp1 NA19012.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0051 a0001c0001t0002g0062 a0001c0001t0002g0065 others(3): Show a0001c0001t0001g0051 a0001c0001t0002g0062 a0001c0001t0002g0065 a0001c0001t0002g0094 a0001c0001t0002g0141 a0001c0001t0002g0151	6	266	0.0226	178	c.240 others(197): Show c.2402+1010_2402+1011insCTCTAAGTATTATATATTATATACTC CAAAACTGTGTGTGTGTGTGTGTGTATATATATATATATATATATATATA TATATATATATTTATACACACATATATATACATACACATATATATATACA CACACACACAGAGTTTTGGAGTATATAATATATAATACTTAGAGTATATA TA	SLC12A1	ENSG00000074803.21	transcript	ENST00000380993.8	protein_coding	19/26		INFO_REALIGN_3_PRIME	chr15	TogoVar
SLC12A1_chr15_48201302_48309078	48270766	A A	ATATATAT others(171): Show ATATATATATACTCTAAGTATTATATATTATATACTCCAAAACTGTGTGT GTGTGTGTGTGTATATATATATATATATATATATATATATATATATTTAT ACACACATATATATACATACACATATATATATACACACACACACAGAGTT TTGGAGTATATAATATATAATACTTAGAG	intron_variant intron_variant	MODIFIER	HG03579.hp2 NA18951.hp2 HG03579.hp2 NA18951.hp2	a0001 a0005 a0001 a0005	a0001c0001 a0005c0008 a0001c0001 a0005c0008	a0001c0001t0012 a0005c0008t0002 a0001c0001t0012 a0005c0008t0002	a0001c0001t0012g0019 a0005c0008t0002g0025 a0001c0001t0012g0019 a0005c0008t0002g0025	2	266	0.0075	178	c.240 others(197): Show c.2402+1012_2402+1013insCTCTAAGTATTATATATTATATACTC CAAAACTGTGTGTGTGTGTGTGTGTATATATATATATATATATATATATA TATATATATTTATACACACATATATATACATACACATATATATATACACA CACACACAGAGTTTTGGAGTATATAATATATAATACTTAGAGTATATATA TA	SLC12A1	ENSG00000074803.21	transcript	ENST00000380993.8	protein_coding	19/26		INFO_REALIGN_3_PRIME	chr15	TogoVar
SLC25A41_chr19_6421037_6438763	6429100	T T	TATATATA others(171): Show TATATATAATATATATATTATATATATGTTATATATATATATAATATATA TATTATATATATGTTACATATATATAATATATATATTATATATATGTTAT ATATATATATAACATATATATAATATATATATTATATATATGTTACATAT ATATAATATATATATTATATATATGTTAC	intron_variant intron_variant	MODIFIER	HG03831.hp1 HG03831.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0172 a0001c0002t0001g0172	1	350	0.0029	178	c.624 others(193): Show c.624+623_624+624insGTAACATATATATAATATATATATTATATA TATGTAACATATATATAATATATATATTATATATATGTTATATATATATA TAACATATATATAATATATATATTATATATATGTAACATATATATAATAT ATATATTATATATATATATAACATATATATAATATATATATTATATAT	SLC25A41	ENSG00000181240.14	transcript	ENST00000321510.7	protein_coding	4/6			chr19	TogoVar
SLC25A46_chr5_110734007_110770157	110750213	T T	TAGAAAGG others(171): Show TAGAAAGGTCTGTAGTCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATGG CGTGAACCCGGGAAGCAGAGCTTGCAGTGAGCCGAGATTGCGCCACTGCA GTCCGCAGTCCCACCTGGGCGACAGAGCGAGACTCCGTCTCAAAAAAAAA AAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00639.hp1 HG01106.hp1 others(12): Show HG00099.hp2 HG00639.hp1 HG01106.hp1 HG01884.hp2 HG03491.hp1 HG03540.hp1 NA18957.hp2 NA18962.hp2 NA18983.hp2 NA18990.hp2 NA19001.hp2 NA19005.hp1 NA19077.hp1 NA20129.hp1 NA20752.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0003 a0001c0002t0025 a0001c0002t0026 a0001c0002t0003 a0001c0002t0025 a0001c0002t0026	a0001c0002t0003g0006 a0001c0002t0003g0045 a0001c0002t0003g0078 others(6): Show a0001c0002t0003g0006 a0001c0002t0003g0045 a0001c0002t0003g0078 a0001c0002t0003g0079 a0001c0002t0003g0119 a0001c0002t0003g0120 a0001c0002t0003g0124 a0001c0002t0025g0055 a0001c0002t0026g0006	15	386	0.0389	178	c.563 others(195): Show c.563+1959_563+1960insTGTAGTCCCAGCTACTCGGGAGGCTGAG GCAGGAGAATGGCGTGAACCCGGGAAGCAGAGCTTGCAGTGAGCCGAGAT TGCGCCACTGCAGTCCGCAGTCCCACCTGGGCGACAGAGCGAGACTCCGT CTCAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAGAAAGGTC	SLC25A46	ENSG00000164209.17	transcript	ENST00000355943.8	protein_coding	5/7		INFO_REALIGN_3_PRIME	chr5	TogoVar
SLC37A3_chr7_140328752_140403530	140387779	A A	AATATAAA others(171): Show AATATAAATATATTATATATATTATATATAAATATAAATATATTATATAT ATTATATATAATATAAATATATTATATATATTATATATAAATATAAATAT ATTATATATATTATATATAAAATATAAATATATTATATATATTATATATA AATATAAATATATTATATATATTATATAT	intron_variant intron_variant	MODIFIER	HG03540.hp2 HG03540.hp2	a0001 a0001	a0001c0018 a0001c0018	a0001c0018t0005 a0001c0018t0005	a0001c0018t0005g0014 a0001c0018t0005g0014	1	346	0.0029	178	c.-70 others(195): Show c.-70-5184_-70-5183insATATATAATATATATAATATATTTATAT TTATATATAATATATATAATATATTTATATTTTATATATAATATATATAA TATATTTATATTTATATATAATATATATAATATATTTATATTATATATAA TATATATAATATATTTATATTTATATATAATATATATAATATATTTATAT	SLC37A3	ENSG00000157800.18	transcript	ENST00000326232.14	protein_coding	1/14			chr7	TogoVar
SLC5A12_chr11_26662020_26727060	26680283	T T	TTATATAT others(171): Show TTATATATATGTATATATATTCATATATATATGTATATATATTCATATAT ATGTATATATATTCATATATATATATGAATATATATTCATATATATATGT ATATATATTCATATATATATGTATATATATTCATATATATATGTATATAT ATTCATATATATATATGTATATATATTCA	intron_variant intron_variant	MODIFIER	HG03139.hp2 HG03139.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0136 a0001c0004t0136	a0001c0004t0136g0358 a0001c0004t0136g0358	1	412	0.0024	178	c.147 others(195): Show c.1475+771_1475+772insTGAATATATATACATATATATATATGAA TATATATACATATATATATGAATATATATACATATATATATGAATATATA TACATATATATATGAATATATATTCATATATATATATGAATATATATACA TATATATGAATATATATACATATATATATGAATATATATACATATATATA	SLC5A12	ENSG00000148942.15	transcript	ENST00000396005.8	protein_coding	12/14			chr11	TogoVar
SLC8A1_chr2_40092270_40457090	40200177	T T	TATATATA others(171): Show TATATATATATATATTTATATATATATATAAATATATATATATATTTATA TATATATATAAATATATATATATATTTATATATATATAAATATATATATA TATATTTATATATATATATAAATATATATATATATTTATATATATATAAA TATATATATATATTTATATATATATATAA	intron_variant intron_variant	MODIFIER	NA18747.hp2 NA19005.hp1 NA18747.hp2 NA19005.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0040 a0001c0001t0001 a0001c0001t0040	a0001c0001t0001g0022 a0001c0001t0040g0139 a0001c0001t0001g0022 a0001c0001t0040g0139	2	236	0.0085	178	c.180 others(199): Show c.1809-21685_1809-21684insTTATATATATATATAAATATATAT ATATATTTATATATATATAAATATATATATATATTTATATATATATATAA ATATATATATATATATTTATATATATATAAATATATATATATATTTATAT ATATATATAAATATATATATATATTTATATATATATATAAATATATATAT ATAT	SLC8A1	ENSG00000183023.19	transcript	ENST00000332839.9	protein_coding	2/10			chr2	TogoVar
SLC8A1_chr2_40092270_40457090	40200177	T T	TATATATA others(171): Show TATATATATATATATTTATATATATATATAAATATATATATATATTTATA TATATATATAAATATATATATATATTTATATATATATATAAATATATATA TATATTTATATATATATATAAATATATATATATATTTATATATATATAAA TATATATATATATTTATATATATATATAA	intron_variant intron_variant	MODIFIER	NA18939.hp1 NA18995.hp2 NA18939.hp1 NA18995.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0029 a0001c0001t0128 a0001c0001t0029 a0001c0001t0128	a0001c0001t0029g0059 a0001c0001t0128g0195 a0001c0001t0029g0059 a0001c0001t0128g0195	2	236	0.0085	178	c.180 others(199): Show c.1809-21685_1809-21684insTTATATATATATATAAATATATAT ATATATTTATATATATATAAATATATATATATATTTATATATATATATAA ATATATATATATATTTATATATATATATAAATATATATATATATTTATAT ATATATATAAATATATATATATATTTATATATATATATAAATATATATAT ATAT	SLC8A1	ENSG00000183023.19	transcript	ENST00000332839.9	protein_coding	2/10			chr2	TogoVar
SLC8A1_chr2_40092270_40457090	40200177	T T	TATATATA others(171): Show TATATATATATATATTTATATATATATATAAATATATATATATATTTATA TATATATATAAATATATATATATATTTATATATATATATAAATATATATA TATATTTATATATATATATAAATATATATATATATTTATATATATATATA AATATATATATATATTTATATATATATAA	intron_variant intron_variant	MODIFIER	NA18959.hp1 NA18959.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0048 a0001c0001t0048	a0001c0001t0048g0002 a0001c0001t0048g0002	1	236	0.0042	178	c.180 others(199): Show c.1809-21685_1809-21684insTTATATATATATAAATATATATAT ATATTTATATATATATATAAATATATATATATATTTATATATATATATAA ATATATATATATATTTATATATATATATAAATATATATATATATTTATAT ATATATATAAATATATATATATATTTATATATATATATAAATATATATAT ATAT	SLC8A1	ENSG00000183023.19	transcript	ENST00000332839.9	protein_coding	2/10			chr2	TogoVar
SMC4_chr3_160394650_160439953	160409102	T T	TAAAAATA others(171): Show TAAAAATACAAAAAATTAGCCGGGCGTAGTGGCGGGCGCCTGTAGTCCCA GCTACTTGGGAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAG CTTGCAGTGAGCCGAGATCCCGCCACTGCACTCCAGCCTGGGCGACAGAG CGAGACTCCGTCTCAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02738.hp2 HG04115.hp1 NA18944.hp1 HG02738.hp2 HG04115.hp1 NA18944.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0005 a0002c0002t0005	a0002c0002t0005g0130 a0002c0002t0005g0131 a0002c0002t0005g0132 a0002c0002t0005g0130 a0002c0002t0005g0131 a0002c0002t0005g0132	3	332	0.0090	178	c.688 others(195): Show c.688-2813_688-2812insTACAAAAAATTAGCCGGGCGTAGTGGCG GGCGCCTGTAGTCCCAGCTACTTGGGAGGCTGAGGCAGGAGAATGGCGTG AACCCGGGAGGCGGAGCTTGCAGTGAGCCGAGATCCCGCCACTGCACTCC AGCCTGGGCGACAGAGCGAGACTCCGTCTCAAAAAAAAAAAAAAAAAAAA	SMC4	ENSG00000113810.16	transcript	ENST00000357388.8	protein_coding	5/23		INFO_REALIGN_3_PRIME	chr3	TogoVar
SMIM14_chr4_39541336_39643865	39562810	A A	ATTTTTGT others(171): Show ATTTTTGTATTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTC GCCCAGGCTGGAGTGCAGTGGCGGGATCTCGGCTCACTGCAAGCTCCGCC TCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGACT ACAGGCGCCCGCCACTACGCCCGGCTAAT	intron_variant intron_variant	MODIFIER	HG00558.hp1 HG00741.hp2 HG01169.hp1 others(39): Show HG00558.hp1 HG00741.hp2 HG01169.hp1 HG01243.hp2 HG01255.hp2 HG01978.hp2 HG02027.hp2 HG02129.hp2 HG02145.hp1 HG02258.hp1 HG02280.hp2 HG02451.hp1 HG02630.hp2 HG02723.hp2 HG02809.hp1 HG02818.hp1 HG02886.hp2 HG02896.hp2 HG02897.hp1 HG02970.hp1 HG03041.hp1 HG03098.hp1 HG03195.hp2 HG03209.hp2 HG03225.hp2 HG03453.hp1 HG06807.hp1 NA18906.hp1 NA18906.hp2 NA18949.hp2 NA18952.hp1 NA18953.hp1 NA18975.hp1 NA18979.hp1 NA18983.hp2 NA18991.hp1 NA18992.hp1 NA19004.hp1 NA19007.hp2 NA19009.hp2 NA19065.hp1 NA19085.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0019 a0001c0001t0027 a0001c0001t0003 a0001c0001t0019 a0001c0001t0027	a0001c0001t0003g0006 a0001c0001t0003g0012 a0001c0001t0003g0013 others(39): Show a0001c0001t0003g0006 a0001c0001t0003g0012 a0001c0001t0003g0013 a0001c0001t0003g0014 a0001c0001t0003g0016 a0001c0001t0003g0017 a0001c0001t0003g0018 a0001c0001t0003g0019 a0001c0001t0003g0037 a0001c0001t0003g0056 a0001c0001t0003g0097 a0001c0001t0003g0129 a0001c0001t0003g0150 a0001c0001t0003g0151 a0001c0001t0003g0153 a0001c0001t0003g0154 a0001c0001t0003g0156 a0001c0001t0003g0158 a0001c0001t0003g0162 a0001c0001t0003g0163 a0001c0001t0003g0166 a0001c0001t0003g0167 a0001c0001t0003g0168 a0001c0001t0003g0169 a0001c0001t0003g0181 a0001c0001t0003g0182 a0001c0001t0003g0183 a0001c0001t0003g0184 a0001c0001t0003g0205 a0001c0001t0003g0207 a0001c0001t0003g0222 a0001c0001t0003g0240 a0001c0001t0003g0260 a0001c0001t0003g0302 a0001c0001t0003g0303 a0001c0001t0003g0315 a0001c0001t0003g0329 a0001c0001t0003g0335 a0001c0001t0003g0337 a0001c0001t0019g0005 a0001c0001t0019g0317 a0001c0001t0027g0236	42	344	0.1221	178	c.125 others(195): Show c.125-6241_125-6240insATTAGCCGGGCGTAGTGGCGGGCGCCTG TAGTCCCAGCTACTTGGGAGGCTGAGGCAGGAGAATGGCGTGAACCCGGG AGGCGGAGCTTGCAGTGAGCCGAGATCCCGCCACTGCACTCCAGCCTGGG CGACAGAGCGAGACTCCGTCTCAAAAAAAAAAAAAAAAAAAATACAAAAA	SMIM14	ENSG00000163683.12	transcript	ENST00000295958.10	protein_coding	3/4			chr4	TogoVar
SMYD3_chr1_245744347_246512279	246402367	T T	TAACAACG others(171): Show TAACAACGCCATCTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTG GCGCGATCTCGGCTCACCACAACCTCCGCCTCCCGGGTTCACGCCATTCT CCTGCCTCAGCCTCCCGAGTAGCTGGGAC	intron_variant intron_variant	MODIFIER	HG01496.hp2 NA18962.hp1 HG01496.hp2 NA18962.hp1	a0002 a0002	a0002c0003 a0002c0004 a0002c0003 a0002c0004	a0002c0003t0001 a0002c0004t0001 a0002c0003t0001 a0002c0004t0001	a0002c0003t0001g0099 a0002c0004t0001g0121 a0002c0003t0001g0099 a0002c0004t0001g0121	2	150	0.0133	178	c.165 others(197): Show c.165-47274_165-47273insGTCCCAGCTACTCGGGAGGCTGAGGC AGGAGAATGGCGTGAACCCGGGAGGCGGAGGTTGTGGTGAGCCGAGATCG CGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTCTCAAAAAA AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAGATGGCGTTG TT	SMYD3	ENSG00000185420.19	transcript	ENST00000490107.6	protein_coding	1/11			chr1	TogoVar
SNTG2_chr2_945849_1372613	1056959	A A	AGGGAGGG others(171): Show AGGGAGGGAGGGAGAGCGTCGCGCTGTGCTGTGGGGCGGGAGGGAGAGGG CGGCGCCACGCTGTGGGGAGGGAGAGAGGGAGAGCACGGCGCCCCGCTGT GCTGTGGGGGAGGGAGGGAGAGCGTCGCTCTGTGCTGTGGGGAGGGAGGG AGGGAGGGAGAGAGCGGGGCCACGTTGTG	intron_variant intron_variant	MODIFIER	NA19030.hp1 NA19030.hp1	a0002 a0002	a0002c0033 a0002c0033	a0002c0033t0001 a0002c0033t0001	a0002c0033t0001g0119 a0002c0033t0001g0119	1	190	0.0053	178	c.73- others(195): Show c.73-26542_73-26541insTCGCGCTGTGCTGTGGGGCGGGAGGGAG AGGGCGGCGCCACGCTGTGGGGAGGGAGAGAGGGAGAGCACGGCGCCCCG CTGTGCTGTGGGGGAGGGAGGGAGAGCGTCGCTCTGTGCTGTGGGGAGGG AGGGAGGGAGGGAGAGAGCGGGGCCACGTTGTGGGGAGGGAGGGAGAGCG	SNTG2	ENSG00000172554.12	transcript	ENST00000308624.10	protein_coding	1/16		INFO_REALIGN_3_PRIME	chr2	TogoVar
SNTG2_chr2_945849_1372613	1222041	C C	CCGTCTCT others(171): Show CCGTCTCTCTCTGTCTCTGTCTCTCTCTGTCTCTGTCTCTCTCTGTCTCT GGCTCTCTCTATCTCTGTCTCTGCCTATCTCTGTCTCTGTTTCTCTCTGT CTCTGCCTATCTCTGTCTCCGTCTCTCTCTGTCTCTGTCTCTCTCTGTCT CTGTCTCTCTCTGTCTCTGGCTCTCTCTA	intron_variant intron_variant	MODIFIER	HG03486.hp2 HG03486.hp2	a0003 a0003	a0003c0007 a0003c0007	a0003c0007t0002 a0003c0007t0002	a0003c0007t0002g0077 a0003c0007t0002g0077	1	190	0.0053	178	c.719 others(197): Show c.719+12811_719+12812insCGTCTCTCTCTGTCTCTGTCTCTCTC TGTCTCTGTCTCTCTCTGTCTCTGGCTCTCTCTATCTCTGTCTCTGCCTA TCTCTGTCTCTGTTTCTCTCTGTCTCTGCCTATCTCTGTCTCCGTCTCTC TCTGTCTCTGTCTCTCTCTGTCTCTGTCTCTCTCTGTCTCTGGCTCTCTC TA	SNTG2	ENSG00000172554.12	transcript	ENST00000308624.10	protein_coding	9/16			chr2	TogoVar
SNX12_chrX_71054247_71073334	71071574	A A	ATATATAT others(171): Show ATATATATAAATATATAATATTTATATATTATATATATAAATATATAATA TTTATATATTATATATATAAATATATAATATTTATATATTATATATAAAT ATATAATATTTATATATTATATATATAAATATATAATATTTATATATATT ATATATAAATATATAATATTTATATATAT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01071.hp2 HG01071.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0015 a0001c0001t0001g0015	1	309	0.0032	178	c.-32 others(189): Show c.-3269_-3268insATATATATAAATATTATATATTTATATATAATAT ATATAAATATTATATATTTATATATATAATATATAAATATTATATATTTA TATATAATATATAAATATTATATATTTATATATATAATATATAAATATTA TATATTTATATATATAATATATAAATATTATATATTTATATATA	SNX12	ENSG00000147164.12	transcript	ENST00000374274.8	protein_coding		3241		chrX	TogoVar
SNX12_chrX_71054247_71073334	71071604	T T	ATATATAT others(171): Show ATATATATAAATATATAATATTTATATATTATATATATAAATATATAATA TTTATATATTATATATAAATATATAATATTTATATATTATATATATAAAT ATATAATATTTATATATATTATATATAAATATATAATATTTATATATATT ATATATAAATATATAATATTTATATATAT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01069.hp1 HG01069.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0015 a0001c0001t0001g0015	1	309	0.0032	178	c.-32 others(189): Show c.-3298_-3297insTATATATAAATATTATATATTTATATATAATATA TATAAATATTATATATTTATATATAATATATATAAATATTATATATTTAT ATATATAATATATAAATATTATATATTTATATATAATATATAAATATTAT ATATTTATATATATAATATATAAATATTATATATTTATATATAT	SNX12	ENSG00000147164.12	transcript	ENST00000374274.8	protein_coding		3270		chrX	TogoVar
SOAT1_chr1_179288797_179363680	179353209	A A	ATATATAT others(171): Show ATATATATATAAATATAAATATATATATATAAATATATATATATTTATAT ATATAAATATATATATATAAATATATATATATTTATATATATAAATATAT ATATATTTATATATATAAATATATATATATTTATATATATAAATATATAT ATATTTATATATATAAATATATATATATT	intron_variant intron_variant	MODIFIER	HG01243.hp2 HG02258.hp2 HG03540.hp2 HG01243.hp2 HG02258.hp2 HG03540.hp2	a0001 a0001	a0001c0004 a0001c0014 a0001c0004 a0001c0014	a0001c0004t0065 a0001c0004t0066 a0001c0014t0045 a0001c0004t0065 a0001c0004t0066 a0001c0014t0045	a0001c0004t0065g0143 a0001c0004t0066g0144 a0001c0014t0045g0156 a0001c0004t0065g0143 a0001c0004t0066g0144 a0001c0014t0045g0156	3	382	0.0079	178	c.159 others(195): Show c.1597-366_1597-365insAATATAAATATATATATATAAATATATA TATATTTATATATATAAATATATATATATAAATATATATATATTTATATA TATAAATATATATATATTTATATATATAAATATATATATATTTATATATA TAAATATATATATATTTATATATATAAATATATATATATTTATATATATA	SOAT1	ENSG00000057252.13	transcript	ENST00000367619.8	protein_coding	15/15		INFO_REALIGN_3_PRIME	chr1	TogoVar
SOAT1_chr1_179288797_179363680	179353211	A A	ATATATAT others(171): Show ATATATATAAATATATATATTTATATATATAAATATATATATATAAATAT ATATATTTATATATATAAATATATATATATAAATATATATATTTATATAT AAATATATATATAAATATATATATTTATATATATAAATATATAAATATAT ATATTTATATATATAAATATATATATATT	intron_variant intron_variant	MODIFIER	HG01496.hp2 HG01496.hp2	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0007 a0001c0005t0007	a0001c0005t0007g0344 a0001c0005t0007g0344	1	382	0.0026	178	c.159 others(195): Show c.1597-366_1597-365insAATATATATATTTATATATATAAATATA TATATATAAATATATATATTTATATATATAAATATATATATATAAATATA TATATTTATATATAAATATATATATAAATATATATATTTATATATATAAA TATATAAATATATATATTTATATATATAAATATATATATATTTATATATA	SOAT1	ENSG00000057252.13	transcript	ENST00000367619.8	protein_coding	15/15		INFO_REALIGN_3_PRIME	chr1	TogoVar
SOCS7_chr17_38346844_38410593	38389863	G G	GTGTATAT others(171): Show GTGTATATATATATATATATATGTACATATATATATATGTACATATATAT ATATGTACATATATATATGTACATATATATATATGTACATATATATATAT GTACATATATATATATGTACATATATATATATGTACATATATATATATGT ACATATATATATATGTACATATATATATA	intron_variant intron_variant	MODIFIER	NA19058.hp2 NA19058.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0042 a0001c0001t0042	a0001c0001t0042g0133 a0001c0001t0042g0133	1	289	0.0035	178	c.168 others(197): Show c.1682-5442_1682-5441insTATATATATATATATATGTACATATA TATATATGTACATATATATATATGTACATATATATATGTACATATATATA TATGTACATATATATATATGTACATATATATATATGTACATATATATATA TGTACATATATATATATGTACATATATATATATGTACATATATATATATG TA	SOCS7	ENSG00000274211.6	transcript	ENST00000612932.6	protein_coding	7/9		INFO_REALIGN_3_PRIME	chr17	TogoVar
SPNS3_chr17_4428940_4493204	4462554	C C	CCACCAGT others(171): Show CCACCAGTCTATCAATCCATCTATCCATCCATCCACCAATCCATCCATCC ATCCATCCATCCACCCATCCACCAATCCATCCATCCACCAATCCATCCAT CTACCCACCCACCAATCCATCCATCCATCCATCCATCCACCCACCCACCC ACCCACCCACCCCATTCATCCACCAATCT	intron_variant intron_variant	MODIFIER	HG02698.hp2 HG02698.hp2	a0003 a0003	a0003c0005 a0003c0005	a0003c0005t0001 a0003c0005t0001	a0003c0005t0001g0311 a0003c0005t0001g0311	1	362	0.0028	178	c.111 others(197): Show c.1113+9349_1113+9350insCACCAGTCTATCAATCCATCTATCCA TCCATCCACCAATCCATCCATCCATCCATCCATCCACCCATCCACCAATC CATCCATCCACCAATCCATCCATCTACCCACCCACCAATCCATCCATCCA TCCATCCATCCACCCACCCACCCACCCACCCACCCCATTCATCCACCAAT CT	SPNS3	ENSG00000182557.8	transcript	ENST00000355530.7	protein_coding	8/11			chr17	TogoVar
SPOCD1_chr1_31785422_31821022	31807412	A A	AGGGGAGG others(171): Show AGGGGAGGGGAGGGAAGGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGG GGAGGGGAGGGGAGGGGATGGGAGGGGAGGGGACGGGAGGGGAGGGGAGG GGGGGAGGGGAGGGGAGGGGGGGAGGGGAGGGGAGGGGAGGGGGAGGGGA GGGGAGGGGGGAGGGGAGGGGAGGGGGAG	intron_variant intron_variant	MODIFIER	HG00423.hp2 NA19057.hp2 HG00423.hp2 NA19057.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0046 a0001c0001t0001g0047 a0001c0001t0001g0046 a0001c0001t0001g0047	2	260	0.0077	178	c.138 others(197): Show c.1384-5708_1384-5707insCTCCCCCTCCCCTCCCCTCCCCCCTC CCCTCCCCTCCCCCTCCCCTCCCCTCCCCTCCCCCCCTCCCCTCCCCTCC CCCCCTCCCCTCCCCTCCCGTCCCCTCCCCTCCCATCCCCTCCCCTCCCC TCCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCCTTCCCTCCCCTCC CC	SPOCD1	ENSG00000134668.13	transcript	ENST00000360482.7	protein_coding	2/15			chr1	TogoVar
SPOCD1_chr1_31785422_31821022	31807412	A A	AGGGGAGG others(171): Show AGGGGAGGGGAGGGAAGGGGGAGGGGAGGGGGAGGGGAGGGGAGGGGAGG GGGAGGGGAGGGGAGGGGATGGGAGGGGAGGGGACGGGGAGGGGAGGGGA GGGGAGGGGAGGGGAGGGGGGGGAGGGGAGGGGAGGGGAGGGGGAGGGGA GGGGAGGGGGGAGGGGAGGGGAGGGGGAG	intron_variant intron_variant	MODIFIER	HG02071.hp2 HG02071.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0043 a0001c0001t0002g0043	1	260	0.0039	178	c.138 others(197): Show c.1384-5708_1384-5707insCTCCCCCTCCCCTCCCCTCCCCCCTC CCCTCCCCTCCCCCTCCCCTCCCCTCCCCTCCCCCCCCTCCCCTCCCCTC CCCTCCCCTCCCCTCCCCGTCCCCTCCCCTCCCATCCCCTCCCCTCCCCT CCCCCTCCCCTCCCCTCCCCTCCCCCTCCCCTCCCCCTTCCCTCCCCTCC CC	SPOCD1	ENSG00000134668.13	transcript	ENST00000360482.7	protein_coding	2/15			chr1	TogoVar
SPOCK3_chr4_166728384_167239494	167205215	T T	TTATATAT others(171): Show TTATATATTTTATATCTATAATATATATTATATATTATATATATTATATC TATAATATATATTATATATTATATATATTTTATATCTATAATATATATTA TATATTATATATATTTTATATCTATAATATATATTATATATTATATATAT TTTATATCTATAATATATATTATATATTA	intron_variant intron_variant	MODIFIER	HG02630.hp2 HG03209.hp1 HG02630.hp2 HG03209.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0008 a0001c0001 a0002c0008	a0001c0001t0002 a0002c0008t0003 a0001c0001t0002 a0002c0008t0003	a0001c0001t0002g0135 a0002c0008t0003g0002 a0001c0001t0002g0135 a0002c0008t0003g0002	2	144	0.0139	178	c.189 others(197): Show c.189+28769_189+28770insTAATATATAATATATATTATAGATAT AAAATATATATAATATATAATATATATTATAGATATAAAATATATATAAT ATATAATATATATTATAGATATAAAATATATATAATATATAATATATATT ATAGATATAATATATATAATATATAATATATATTATAGATATAAAATATA TA	SPOCK3	ENSG00000196104.11	transcript	ENST00000357545.9	protein_coding	2/10			chr4	TogoVar
SPPL2B_chr19_2323684_2360095	2349021	C C	CTCTCTCC others(171): Show CTCTCTCCACACACACTCACGCTCTCATTCGCTTGATTCCGTTCTCTCTC TCTCCACACACACTCACGCGCTCTCATTCGCCTGATTCCGTTCTCTCTCC ACACACACGCACTCTTATTCGCCTGATTCCGTTCTCTCTCTCTCCACACA CTCACGCACTCTTATTCGCCTGATTCCGT	intron_variant intron_variant	MODIFIER	HG02976.hp2 HG02976.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0234 a0001c0001t0006g0234	1	414	0.0024	178	c.135 others(197): Show c.1355-2407_1355-2406insCACACACACTCACGCTCTCATTCGCT TGATTCCGTTCTCTCTCTCTCCACACACACTCACGCGCTCTCATTCGCCT GATTCCGTTCTCTCTCCACACACACGCACTCTTATTCGCCTGATTCCGTT CTCTCTCTCTCCACACACTCACGCACTCTTATTCGCCTGATTCCGTTCTC TC	SPPL2B	ENSG00000005206.17	transcript	ENST00000613503.5	protein_coding	13/14		INFO_REALIGN_3_PRIME	chr19	TogoVar

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